Profile

C Ronald Scott, MD

C Ronald Scott, MD

Genetics, Pathology

On staff since October 1964

C. Ronald Scott, MD, is attending physician at Seattle Children's Hospital and professor in the departments of Pediatrics and Medicine at the University of Washington. He has special clinical expertise in the diagnosis and management of children and adults with inborn errors of metabolism. He is director of the Phenylketonuria and Metabolic Disease Clinics at the University of Washington and has initiated a program for the diagnosis and management of children or adults with lysosomal storage diseases.

Dr. Scott's research focuses on collaboration with the University of Washington's Department of Chemistry in the development of special applications of tandem mass spectroscopy for the diagnosis of biochemical disorders through newborn screening programs. He has multiple grants from federal and private agencies in support of detecting metabolic diseases through newborn screening and for the management of lysosomal storage disorders.  Dr. Scott is board certified in pediatrics, biochemical genetics and molecular genetics. He serves as an advisor on genetics for the Washington State Legislature and Department of Health. He serves as a consultant to companies who manufacture special infant formulas and to pharmaceutical companies regarding the appropriate management of individuals with lysosomal storage diseases. He has served on the board of directors for the Society for Inherited Metabolic
Disorders, the American Board of Medical Genetics and the American Society of Human Genetics. Dr. Scott recently received the FDA Commissioner's Special Citation for his work on hereditary tyrosinemia I and has been listed in "Best Doctors in America" since 1992.

Overview

Board Certification(s)

Clinical Genetics (MD)
Pediatrics
Clinical Biochemical Genetics

Medical/Professional School

University of Washington School of Medicine, Seattle

Fellowship

Medical Genetics, University of Washington, Seattle

Publications

  • Duffey TA, Khaliq T, Scott CR, Turecek F, Gelb MH
    Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.
    Bioorganic & medicinal chemistry letters , 2010 Oct. 15 : 5994-6
  • Choiniere JR, Scott CR, Gelb MH, Turecek F
    Direct assay of delta-aminolevulinic acid dehydratase in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry.
    Analytical chemistry , 2010 Aug. 1 : 6730-6
  • Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH
    Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.
    Clinical chemistry , 2008 Dec. : 2067-70
  • Hruska KS, LaMarca ME, Scott CR, Sidransky E
    Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Human mutation , 2008 May : 567-83
  • Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP
    Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2008 May : 353-8
  • Wang Y, Gatti P, Sadílek M, Scott CR, Turecek F, Gelb MH
    Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and coproporphyrinogen III oxidase.
    Analytical chemistry , 2008 Apr, 1 : 2599-605
  • Wang Y, Scott CR, Gelb MH, Turecek F
    Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase.
    Analytical chemistry , 2008 Apr, 1 : 2606-11
  • Tarini BA, Burke W, Scott CR, Wilfond BS
    Waiving informed consent in newborn screening research: balancing social value and respect.
    American journal of medical genetics. Part C, Seminars in medical genetics , 2008 Feb. 15 : 23-30
  • Wang D, Wood T, Sadilek M, Scott CR, Turecek F, Gelb MH
    Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
    Clinical chemistry , 2007 Jan. : 137-40
  • Turecek F, Scott CR, Gelb MH
    Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening.
    Methods in molecular biology (Clifton, N.J.) , 2007 : 143-57
  • Scott CR
    The genetic tyrosinemias.
    American journal of medical genetics. Part C, Seminars in medical genetics , 2006 May 15 : 121-6
  • Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA
    Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
    The Journal of biological chemistry , 2006 Feb. 17 : 4242-53
  • Yu C, Scott CR
    Human biochemical genetics: an insight into inborn errors of metabolism.
    Journal of Zhejiang University. Science. B , 2006 Feb. : 165-6
  • Beutler E, Gelbart T, Scott CR
    Hematologically important mutations: Gaucher disease.
    Blood cells, molecules & diseases , 2005 Nov. : 355-64
  • Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, Gelb MH
    Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.
    Clinical chemistry , 2005 May : 898-900
  • Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ
    Individualization of long-term enzyme replacement therapy for Gaucher disease.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2005 Feb. : 105-10
  • Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A
    Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
    Genetic testing , 2005 : 26-9
  • Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH
    Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    Clinical chemistry , 2004 Oct. : 1785-96
  • Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH
    Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    Clinical chemistry , 2004 Oct. : 1785-96
  • Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A
    Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
    Seminars in hematology , 2004 Oct. : 15-22
  • Shamseddine A, Taher A, Fakhani S, Zhang M, Scott CR, Habbal MZ
    Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.
    American journal of medical genetics. Part A , 2004 Mar. 15 : 257-60
  • Li Y, Brockmann K, Turecek F, Scott CR, Gelb MH
    Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.
    Clinical chemistry , 2004 Mar. : 638-40
  • Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ
    Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.
    The Journal of pediatrics , 2004 Jan. : 112-20
  • Brautbar A, Elstein D, Abrahamov A, Zeigler M, Chicco G, Beutler E, Scott CR, Zimran A
    The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
    Blood cells, molecules & diseases , 2003 Sept. : 187-9; discussion 190-1
  • Ogata Y, Scampavia L, Růzicka J, Scott CR, Gelb MH, Turecek F
    Automated affinity capture-release of biotin-containing conjugates using a lab-on-valve apparatus coupled to UV/visible and electrospray ionization mass spectrometry.
    Analytical chemistry , 2002 Sept. 15 : 4702-8
  • Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A
    Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.
    The American journal of medicine , 2002 Aug. 1 : 112-9
  • Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F
    Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
    American journal of medical genetics , 2002 May 15 : 328-31